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Objective: This study aimed to assess whether a partial term prelabor rupture of membranes (partial TPROM) had an impact on the spontaneous onset of labor compared to complete TPROM., Methods: We performed a retrospective study in a French level III maternity hospital. We included all singleton cephalic pregnancies presenting with prelabor rupture of membranes ≥37 weeks gestational age. Patients with a partial TPROM (P group) were compared to patients with a complete TPROM (C group). Induction of labor was performed following expectative management of 24-48 h, and antibiotic prophylaxis was started 12 h after rupture. Our main outcome measure was the rate of patients who had spontaneous labor 24 h following prelabor rupture., Results: Overall, 389 women were included in the study, 148 in the P group, 241 in the C group. The proportion of women who went into spontaneous labor in the 24 h following TPROM was significantly lower in the P group (45% vs 64%, P < 0.001). A partial TPROM was a predictive factor for absence of labor at 24 h following rupture (adjusted odds ratio: 0.44 [0.29-0.68]). There were more cases of induction of labor (50% vs 20%, P < 0.001) and antibiotic prophylaxis (91% vs 73%, P < 0.001) in the P group. However, obstetrical and neonatal outcomes were comparable between the two groups., Conclusion: Compared to complete TPROM, partial TPROM is associated with a lower probability of spontaneous labor in the 24 h following rupture. The persistence of a residual membrane has been identified as a risk factor for delaying labor beyond 24 h., (© 2024 International Federation of Gynecology and Obstetrics.)

Purpose: Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of gamma-aminobutyric acidergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA-binding domains. SP9 plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a human neurodevelopmental disorder., Methods: Cases with SP9 variants were collected through international data-sharing networks. To address the specific impact of SP9 variants, in silico and in vitro assays were carried out., Results: De novo heterozygous variants in SP9 cause a novel form of interneuronopathy. SP9 missense variants affecting the glutamate 378 amino acid result in severe epileptic encephalopathy because of hypomorphic and neomorphic DNA-binding effects, whereas SP9 loss-of-function variants result in a milder phenotype with epilepsy, developmental delay, and autism spectrum disorder., Conclusion: De novo heterozygous SP9 variants are responsible for a neurodevelopmental disease. Interestingly, variants located in conserved DNA-binding domains of KLF/SP family transcription factors may lead to neomorphic DNA-binding functions resulting in a combination of loss- and gain-of-function effects., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

A congenital malformation of the head, neck or thorax can lead to upper airway compression with a risk of asphyxia or neonatal death. To secure and protect the upper airway, the Ex Utero Intrapartum Therapy (EXIT) procedure has been developed. The procedure allows delivery of the fetus via a hysterotomy while relying on the placenta as the organ of respiration for the fetus prior to clamping of the umbilical cord. A high level of expertise is necessary for successful completion of the EXIT procedure, which is not void of maternal and fetal risks. In this literature review, we present the indications, procedure methods and materno-fetal complications associated with the EXIT procedure., Competing Interests: Declaration of Competing Interest The authors report no conflict of interest and declare that the article is original, unpublished and not being considered for publication elsewhere. All authors fulfill all conditions required for authorship., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Desbuquois dysplasia is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature, joint laxity with multiple joint dislocations, specific radiographic features, and facial dysmorphism. Here, we report a case for which whole exome sequencing allowed early prenatal diagnosis of Desbuquois dysplasia before the detection of characteristic ultrasound signs of the disease.

The requesting of medical termination of pregnancy (MTP) for psychosocial reasons invites several questions concerning progress in medicine as well raising necessary and legitimate ethical questions. The law currently permits MTP for maternal reasons at any stage of pregnancy if the woman's health is at a significant risk. However, conceptions of mental health risks remain a grey area and present difficulties in terms of psychiatric assessment. When dealing with a patient suffering from a psychiatric disorder, questions must be asked on the reasons behind the request as well as questions concerning free and clear consent. It must also be taken into account that the progressive nature of pregnancy means patient care must be provided relatively quickly. These cases invite discussion on medical decisions, on both a moral and rational level, and the legitimacy of the basis on which the medical decision is taken in the context of MTP for psychosocial reasons., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)

Introduction: The incidence of fetal goiters is reported to be around 1 per 40,000 births. The risk of complications is first of all obstetric, directly related to goiter size, but it may also affect longer term fetal and child development, depending on whether the goiter is due to hypo- or hyperthyroidism. Management is multidisciplinary, but not yet consensual and not always optimal by either endocrinologists or obstetricians. Objectives: The principal objective of this retrospective study was to analyze the data that enabled the physicians to assess whether the goiter was hypo- or hyperthyroid and then to analyze the obstetric practices used in the Pays de Loire network to describe in detail the tools used to diagnose and characterize the goiters and the management chosen in these cases. The secondary objectives are to assess, in our small cohort, the effectiveness of the in utero treatments provided, based on the examination of the children at birth and their outcome at 6 months of life, and to suggest a strategy for monitoring these women at risk that takes current guidelines into consideration. Materials and methods: This multicenter retrospective study covers a 6-year period and focused on the prenatal diagnosis centers (CPDPN) of the Pays de Loire perinatal network: in Nantes, Angers, and Le Mans. The network is responsible for around 42,000 births a year, and the study included 17 women, for a prevalence of 1 per 15,000 births. Results: Ten of the 17 fetuses had a hypothyroid goiter, 4 a hyperthyroid goiter, and 3 normal thyroid findings on fetal blood sample (FBS). For four women, these goiters were secondary to fetal dyshormonogenesis, for 9 more to Graves disease with TSH receptor antibodies (TRAb), and for four women to thyrotoxicosis at the start of pregnancy, managed by synthetic antithyroid drugs. Two newborns had severe complications associated with maternal transmission of Graves disease (TRAb positive at birth): one with exophthalmos and one with neonatal tachycardia. The other 14 had normal psychomotor development at 6 months, based on a clinical examination by a pediatric endocrinologist; only one child was lost to follow-up. Conclusion: Together, ultrasound and multidisciplinary expertise (of an endocrinologist and an obstetrician experienced with this disease) remain the best means for avoiding, or otherwise for accurately characterizing fetal goiter. An ultrasound diagnostic score, of the type proposed by Luton et al. in 2009, may make it possible to homogenize practices and thus to defer or delay the - currently too common - performance of invasive FBS procedures, which must remain rare in this management to limit comorbidities. A threshold TRAb value (>5 IU/l) makes it possible to define this group of women as at risk of fetal and neonatal hyperthyroidism and thus requiring close monitoring. The value of prenatal intra-amniotic thyroxine treatment for hypothyroid goiters (including dyshormonogenesis) remains to be demonstrated.

Objectives: The objective of this study was to assess whether the laterality of congenital diaphragmatic hernia (CDH) was a prognostic factor for neonatal survival., Methods: This was a cohort study using the French national database of the Reference Center for Diaphragmatic Hernias. The principal endpoint was survival after hospitalization in intensive care. We made a comparative study between right CDH and left CDH by univariate and multivariate analysis. Terminations and stillbirths were excluded from analyses of neonatal outcomes., Results: A total of 506 CDH were included with 67 (13%) right CDH and 439 left CDH (87%). Rate of survival was 49% for right CDH and 74% for left CDH (P < .01). Multivariate analysis showed two factors significantly associated with mortality: thoracic herniation of liver (OR 2.27; IC 95% [1.07-4.76]; P = .03) and lung-to-head-ratio over under expected (OR 2.99; IC 95% [1.41-6.36]; P < .01). Side of CDH was not significantly associated with mortality (OR 1.87; IC 95% [0.61-5.51], P = .26)., Conclusion: Rate of right CDH mortality is more important than left CDH. Nevertheless after adjusting for lung-to-head-ratio and thoracic herniation of liver, right CDH does not have a higher risk of mortality than left CDH., (© 2020 John Wiley & Sons, Ltd.)

Background: The efficacy of prophylaxis to prevent prenatal toxoplasmosis transmission is controversial, without any previous randomized clinical trial. In France, spiramycin is usually prescribed for maternal seroconversions. A more potent pyrimethamine + sulfadiazine regimen is used to treat congenital toxoplasmosis and is offered in some countries as prophylaxis., Objective: We sought to compare the efficacy and tolerance of pyrimethamine + sulfadiazine vs spiramycin to reduce placental transmission., Study Design: This was a randomized, open-label trial in 36 French centers, comparing pyrimethamine (50 mg qd) + sulfadiazine (1 g tid) with folinic acid vs spiramycin (1 g tid) following toxoplasmosis seroconversion., Results: In all, 143 women were randomized from November 2010 through January 2014. An amniocentesis was later performed in 131 cases, with a positive Toxoplasma gondii polymerase chain reaction in 7/67 (10.4%) in the pyrimethamine + sulfadiazine group vs 13/64 (20.3%) in the spiramycin group. Cerebral ultrasound anomalies appeared in 0/73 fetuses in the pyrimethamine + sulfadiazine group, vs 6/70 in the spiramycin group (P = .01). Two of these pregnancies were terminated. Transmission rates, excluding 18 children with undefined status, were 12/65 in the pyrimethamine + sulfadiazine group (18.5%), vs 18/60 in the spiramycin group (30%, P = .147), equivalent to an odds ratio of 0.53 (95% confidence interval, 0.23-1.22) and which after adjustment tended to be stronger (P = .03 for interaction) when treatment started within 3 weeks of seroconversion (95% confidence interval, 0.00-1.63). Two women had severe rashes, both with pyrimethamine + sulfadiazine., Conclusion: There was a trend toward lower transmission with pyrimethamine + sulfadiazine, but it did not reach statistical significance, possibly for lack of statistical power because enrollment was discontinued. There were also no fetal cerebral toxoplasmosis lesions in the pyrimethamine + sulfadiazine group. These promising results encourage further research on chemoprophylaxis to prevent congenital toxoplasmosis., (Copyright © 2018. Published by Elsevier Inc.)

Objective: This study aimed to assess the application of the French guidelines for pregnancies in Turner syndrome (TS) and their impact on perinatal prognosis., Study Design: We performed a French multi-center retrospective study (14 centers), including TS pregnant patients (spontaneously or by Assisted Reproductive Technology (ART)) between January 2006 and July 2017. Only clinical pregnancies were analyzed. The adjustment of medical follow-up modalities to French guidelines was evaluated for all pregnancies after 2009. Pregnancies from oocyte donation (OD) after 2009 were compared to those of a cohort of TS pregnancies obtained by OD before 2009, which were reported by the French Study Group for Oocyte Donation., Results: One hundred seventy pregnancies in 103 patients were included: 35 spontaneous, 5 by means of intra-conjugal ART, and 130 with OD. No serious maternal complications were observed. We reported two stillbirths and one intra uterine fetal death. The French guidelines were partially respected. The preconceptional assessment was carried out in 74% of cases. Cardiology follow-up during pregnancy was performed in accordance with guidelines in 74% of patients. Postpartum cardiac ultrasonography was performed in 45% of pregnancies but only in 11% within 8 days post-partum. When compared to the 2009 historical cohort, the rates of high blood pressure (19% vs. 38%; p < 0.005) pre-eclampsia (8% vs. 21%; p < 0.005) and prematurity <35 weeks (15% vs 38%; p < 0.0001) were lower., Conclusions: The implementation of guidelines has allowed the standardization of TS pregnancy care and improved perinatal indicators for both mothers and children. However, an effort must be done, in a postpartum survey., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Copyright of EMC-Gynecologie--Obstetrique is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of EMC-Gynecologie--Obstetrique is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Virologie is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Skeletal disorders encompass a wide array of conditions, many of which are associated with short stature. Among these, Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple dislocations, and unique vertebral and metaphyseal anomalies. Desbuquois dysplasia is inherited in an autosomal recessive manner, with both the DBQD1 (MIM 251450) and DBQD2 (MIM 615777) forms resulting from biallelic mutations. Specifically, DBQD1 is associated with homozygous or compound heterozygous mutations in the CANT1 gene, while DBQD2 can result from mutations in either the CANT1 or XYLT1 genes. This review synthesizes the findings of 111 published case reports, including 54 cases of DBQD1, 39 cases of DBQD2, and 14 cases of the Kim variant (DDKV). Patients in this cohort had a median birth weight of 2505 g, a median length of 40 cm, and a median occipitofrontal circumference of 33 cm. The review highlights the phenotypic variations across Desbuquois dysplasia subtypes, particularly in facial characteristics, joint dislocations, and bone deformities. Genetic analyses revealed a considerable diversity in mutations, with over 35% of cases involving missense mutations, primarily affecting the CANT1 gene. Additionally, approximately 60% of patients had a history of parental consanguinity, indicating a potential genetic predisposition in certain populations. The identified mutations included deletions, insertions, and nucleotide substitutions, many of which resulted in premature stop codons and the production of truncated, likely nonfunctional proteins. These findings underscore the genetic and clinical complexity of Desbuquois dysplasia, highlighting the importance of early diagnosis and the potential for personalized therapeutic approaches. Continued research is essential to uncover the underlying mechanisms of this disorder and improve outcomes for affected individuals through targeted treatments. [ABSTRACT FROM AUTHOR]

This case series aims to evaluate the long-term outcomes of congenital cytomegalovirus (CMV) infection in a population treated with valaciclovir during pregnancy. The study focuses on assessing the prevalence of long-term sequelae in infants with confirmed CMV fetal infection. A retrospective analysis was conducted on 33 pregnancies corresponding to 34 fetus with confirmed CMV congenital infection. They were followed from November 2004 to December 2020. Valaciclovir treatment was initiated after confirmation of fetal infection, and fetal outcomes were monitored through serial ultrasounds, neurosonography, and fetal magnetic resonance imaging (MRI). Postnatal assessments included: PCR confirmation, symptoms evaluation at birth, and long-term follow-up protocols for visual, auditory, and neurodevelopmental assessment. Therapy was started at a median gestational age of 24 weeks. Of the 34 newborns 79.4 % were asymptomatic at birth. Median follow-up time was 6 years and 32.35 % developed long-term sequelae. Neurosensorial hearing loss (SNHL) was the predominant sequelae. In the cases which developed sequelae 54.5 % had imaging findings, and all with major findings developed long-term sequelae. In our treated population we had a higher asymptomatic rate at birth comparing with a non-treated population, similar to those found in previous studies. We had a long-term sequelae rate of 32.35 %, similar to recent studies on non-treated population, although we registered a slightly lower rate of SNHL. A larger multicenter studies with a longer follow-up time, where treatment is started in the first trimester, is of the utmost importance, so we can truly understand the correlation between these imaging findings, therapy and long-term sequelae. [ABSTRACT FROM AUTHOR]

Objectives: To attempt to determine for post-term pregnancies the optimal gestational age when the benefit-harm balance is in favor of induction labor in comparison with an expectative management including close monitoring., Methods: Articles were searched using PubMed, Embase and Cochrane library., Results: Current literature data are insufficient to demonstrate that routine labor induction is superior, inferior or equivalent to an expectant management to reduce maternal and perinatal mortality and morbidity (EL2). Although it is impossible to determine certainly a gestational age for which the benefit-harm balance is in favor of induction labor, epidemiological data regarding the perinatal mortality suggest that an expectant management is an unreasonable option after 42 completed weeks (EL3). Current data are insufficient to state positively or negatively that routine labor induction is associated significantly to a lower rate of cesarean delivery in comparison with an expectant management (EL2). There is no evidence of a statistically significant difference in the risk of cesarean section between the two policies for women with favorable cervices (Bishop score ≥ 5) (EL2)., Conclusions: Induction of labor at 41(+0) to 42(+6)weeks should be proposed to women with uncomplicated post-term pregnancies (EL2). The optimal age gestionnal for induction will depend mainly on maternal characteristics (EL4), but also on women's preferences and organization of maternity cares, after having delivered information regarding the benefits and harms of both labor induction and expectant management (expert opinion). After 42(+0)weeks, expectant management is a possible option (expert opinion). Nevertheless, it may be associated with an increase of risks for the fetus, that must be explained to the patient and be weighed against the possible disadvantages of an induction of labor (expert opinion)., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Objectives: To determine prenatal methods to predict and prevent spontaneous preterm birth in asymptomatic twin pregnancies., Methods: Articles were searched using PubMed, Embase and Cochrane library., Results: Uterine activity monitoring and bacterial vaginosis screening are not useful to predict preterm birth (EL2 and EL3 respectively). Current literature data are contradictory and insufficient to determine whether fetal fibronectin and digital cervical assessment are predictors of preterm birth. History of preterm birth (EL4), and cervical length measurement by transvaginal ultrasonography (EL2) predict preterm birth. Nevertheless, there are no intervention studies that have evaluated cervical length measurement in the prevention of preterm birth. Hospital bedrest, prophylactic tocolytic and progesterone therapy, and prophylactic cervical cerclage in patients with or without short cervix have not been shown to be effective in preventing preterm birth., Conclusions: Prenatal methods to prevent spontaneous preterm birth in asymptomatic twin pregnancies are currently very limited., (Copyright © 2009 Elsevier Masson SAS. All rights reserved.)